the dreaded diagnosis

This is a scary moment for us all

We asked for a diagnosis because we knew something was going wrong and maybe we also knew about things going wrong for one of our parents.

Of course what we really want to hear is that our current problems are entirely fixable and nothing to do with a genetically inherited condition beyond any help from the doc.

The horrid moment

Then we get our diagnosis. It goes something like this.

“I’m afraid you have tested positive for ataxia (your variant goes here). This is genetic and you had a 50% chance of inheriting it.” (Guess what your inheritance was 100%.)

“Because it’s genetic we haven’t yet found a way of interfering with it or cutting it out. Frankly as it’s a fairly minor occurring condition and not life threatening, not much has been spent, or is likely to be spent on dealing with it.”

“What I can tell you is it is not life threatening, but can be life limiting. As it’s genetic the only prognosis we are prepared to offer is IT WILL ONLY GET WORSE!”

Now what?

Faced with this bleak outlook how do we respond? I spent some time feeling pretty sorry for myself. Lamenting all those plans I had for my retirement, which would have to be shelved. Wondering how much of a nuisance I would become to others and generally feeling that my so far charmed life had been stolen from me. Earlier this year I went quite silent as speaking was just too much effort. My wife complained!

How was it for you?

I like to call this the 'wibbly wobbly gene'. As it's genetic and you have it too, perhaps we are related? Welcome brothers, sisters, cousins, nephews, nieces, uncles, aunts, let's fix this together.

Do you want some good news?

Have a look at ataxiafightback.wordpress.com this is a website I'm producing to help myself and share my findings with you all. It's not finished yet but has some stuff to get your teeth into already.

Nigel

7 Replies

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  • Hi...

    I found out earlier this year that my dad has SCA type 2 along with his brother, my uncles speech and walking is a lot worse than my dads but I will certainly be advising them to take a look at your blog.

    I'm currently waiting for an appointment to see the specialist about my diagnosis... Not sure yet wether or not I want to find out so I'm sort of in limbo at the moment.

    Your blog is brilliant, you should be very proud and it's good to see someone trying to help them self as like you say it brings a lot of people down knowing you can't do things you want to any more

    Thanks

    Toni x

  • Hi Toni

    the moment I started to do something about my ataxia I felt better about myself.

    There is so much we don't know and the internet is a great resource to find new ways of dealing with our pesky gene issue.

    As always take care when trying something new and don't be persuaded to send anyone money, not even me! Well if you must!!

    In writing this reply to you I've just realised how much homour and laughter can help, I'll add something on this in my blog site soon.

    Nigel

  • Dear Nigel, I LOVE your blog! Thank you for posting this information! I look so forward to reading about the information yet to come! My best to you...,;o)

  • Hi February

    Thanks for the positive feedback. More to do so watch this space.

  • Thank you so much for your site😊

    Def being positive makes a huge difference and I have only in the last few weeks started saying to myself "I can do it, just in my own way". Still stuck with bigger things in life at mo.

    I'm really looking forward to seeing more

    Alison

  • Hi Alison

    Keep up the positive self talk, what we say to ourselves is vitally important.

    Thanks for your feedback.

  • Hi Nigel,

    First, I love your blog (Sunday's reading is now sorted).

    It's great to hear that you are being so positive. Life is certainly affected. And, although it is different, it can still be great.

    I too went through that period of thinking about all of the future plans that I had. Plans that would now go unrealised. And I must admit to feeling pretty low.

    But ataxia just means that other possibilities arise.

    Luckily, I have always had a "do it today, don't worry about tomorrow" attitude. My father died when I was just 21, and he had worked very hard all of his life - and was looking forward to enjoying his retirement. A retirement that never came. So, I've always seen every present day as precious - and have done quite a bit of living as a result.

    I guess this was one of the reasons that I received my ataxia diagnosis in a state of shock. Yes, I had done quite a lot of living, but I had got into the habit of expecting to be able to do everything.

    I was actually midway through a 50,000km "round-the-world" train journey when I fell ill. I abandoned the journey in Novosibirsk, Siberia (after I had done 21,000km - so not a bad stab) and returned home.

    This was in 2013, and it has taken doctors/neurologists 2 years to diagnose the problem. Spinocerebellar ataxia.

    I'm planning to do the entire trip again (all 50,000km of it) next year. This time, to raise funds for Ataxia UK though. You can read more at:

    100trains.com

    Keep smiling Nigel :-)

    Iain

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